Canonical Allele Identifier: CA2448039583
Gene: TNMD HGNC NCBI

Linked Data

dbSNP Id: rs2082958209

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598204A>G , CM000685.2:g.100598204A>G GRCh38
NC_000023.10:g.99853201A>G , CM000685.1:g.99853201A>G GRCh37
NC_000023.9:g.99739857A>G NCBI36
NG_013266.1:g.18412A>G
NG_013266.2:g.18412A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.577+547A>G MANE Select ENSP00000362122.4:n.577+547A>G
ENST00000373031.4:c.577+547A>G ENSP00000362122.4:n.577+547A>G
NM_022144.2:c.577+547A>G NP_071427.2:n.577+547A>G
XM_005262175.3:c.388+547A>G XP_005262232.1:n.388+547A>G
XM_005262176.1:c.577+547A>G XP_005262233.1:n.577+547A>G
XM_011531008.1:c.388+547A>G XP_011529310.1:n.388+547A>G
XM_011531009.1:c.388+547A>G XP_011529311.1:n.388+547A>G
XM_011531010.1:c.388+547A>G XP_011529312.1:n.388+547A>G
NM_022144.3:c.577+547A>G MANE Select NP_071427.2:n.577+547A>G